C-ter TLR7 variant dimer [endolysosome membrane]

Stable Identifier
R-HSA-9824845
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Synonyms
SLE-associated TLR7 variant dimer, TLR7 Y264H, TLR7 F507L dimer
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
35477763 TLR7 gain-of-function genetic variation causes human lupus

Ding, H, Lopez, AF, Calame, DG, Levy, T, Andrews, TD, Field, MA, Lupski, JR, Shen, N, Burgio, G, Miosge, LA, Garulo, DC, Koina, ME, de Lucas Collantes, C, Wu, P, Vinuesa, CG, He, Y, Meng, X, Mallack, EJ, Cho, E, Bassett, K, Babon, JJ, Brown, GJ, Wang, H, Lotze, T, Zhang, Y, Turnbull, C, Ullah, TR, Cañete, PF, Qin, Y, Shen, Q, Gantier, MP, Ellyard, JI, Gónzalez-Murillo, Á, Tvorogov, D, Cook, MC, Cappello, J, Walters, GD, Athanasopoulos, V, Pascual, V, Medhavy, A, Roco, JA, Bones, J, López, CA, Corry, B

Nature 2022
Participants
Participates
Disease
Name Identifier Synonyms
systemic lupus erythematosus DOID:9074 Lupus Erythematosus, systemic, SLE - Lupus Erythematosus, systemic, disseminated lupus erythematosus
autoimmune hypersensitivity disease DOID:417 autoimmune disease, hypersensitivity reaction type II disease
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